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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:STX1A

Variant:p.R210H

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STX1A

NM_004603.4:p.R210H

hg38:chr7:73702894 C>T

Associated Papers

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Millichap JJ et al.

Neurology. Genetics, 2016

27602407 (PubMed )

Supplement: supp_2.5.e96_tables.docx

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."